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Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none comp...
Autores principales: | Gholizad-kolveiri, Soraya, Hooman, Nakysa, Alizadeh, Rasoul, Hoseini, Rozita, Otukesh, Hasan, Talebi, Saeed, Akouchekian, Mansoureh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446132/ https://www.ncbi.nlm.nih.gov/pubmed/32838746 http://dx.doi.org/10.1186/s12881-020-01097-9 |
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